{"id":"W2761333677","doi":"10.24870/cjb.2017-a69","title":"Exome Sequencing for cerebral palsies: Opening windows for differential diagnosis","year":2017,"lang":"en","type":"article","venue":"Canadian Journal of Biotechnology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Exome sequencing; Differential diagnosis; Medicine; Differential (mechanical device); Biology; Pathology; Genetics; Mutation; Gene; Engineering","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001187699,0.0001249286,0.0002165929,0.0001477546,0.0004758252,0.0001012353,0.0006260626,0.0003167438,0.00002201395],"category_scores_gemma":[0.0005783447,0.0001172155,0.0002056494,0.00001797334,0.0001896104,0.000007747086,0.00004838474,0.0000980698,7.640514e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005443818,"about_ca_system_score_gemma":0.000712579,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006686919,"about_ca_topic_score_gemma":0.008319894,"domain_scores_codex":[0.9991673,0.000009693656,0.0002440942,0.0001867778,0.00003619539,0.0003560023],"domain_scores_gemma":[0.9989486,0.0000166068,0.0003119101,0.0003434005,0.0001325282,0.0002469566],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003788605,0.00006260003,0.04539729,0.0001834958,0.0009443436,0.0002330899,0.0002385116,0.0001643355,0.8531453,0.005397697,0.02016448,0.07368998],"study_design_scores_gemma":[0.003194843,0.001658991,0.005042782,0.0001061809,0.0001794263,0.0003901733,0.0007029053,0.0001319677,0.7438106,0.002217704,0.2420253,0.0005391258],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9887517,0.0008616844,0.00696204,0.002200158,0.0006778519,0.0002652004,0.0002506016,0.000003116666,0.00002764168],"genre_scores_gemma":[0.9974141,0.00009550559,0.001735957,0.000145861,0.0004358424,0.00003439026,0.00002867783,0.0000234509,0.00008623799],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2218608,"threshold_uncertainty_score":0.477991,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02313916856822901,"score_gpt":0.257060325376922,"score_spread":0.233921156808693,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}